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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Retinitis pigmentosa | nervous | 100 % | 18806796 | 2016-08-17 | |
| Visual impairment | nervous | 100 % | 18806796 | 2016-08-17 | |
| Cataract | nervous | 50 % | 18806796 | 2016-08-17 |
List of references:
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
Dyonne T Hartong, Mayura Dange, Terri L McGee, Eliot L Berson, Thaddeus P Dryja, Roberta F Colman,
Nature genetics - Oct 2008